Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V299fs
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BRCA1

NM_007294.4:p.V299fs

Associated Papers

Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.

Rashid MU et al.

International Journal of Cancer, 2025

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › TCGA_n_569_

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Akbar F et al.

Hereditary Cancer in Clinical Practice, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.

Rashid MU et al.

Hereditary Cancer in Clinical Practice, 2019

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